Canonical Allele Identifier: PA915987496
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411206
ClinVar RCV Id: RCV000462134 RCV002323742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Gly980Arg
CA035781
NM_001162427.2:c.2938G>A
CA375367495
NM_001162427.2:c.2938G>C